277 related articles for article (PubMed ID: 12428061)
21. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
Konoshita T; Mutoh H; Yokoi T; Koni I; Miyamori I; Mabuchi H
Clin Nephrol; 2001 Mar; 55(3):243-7. PubMed ID: 11316246
[TBL] [Abstract][Full Text] [Related]
22. New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT; Pessoa JG; Motta FL; Muñoz Rojas MV; Müller KB; Lourenço CM; Junior Marques W; D'Almeida V; Martins AM; Pesquero JB
J Hum Genet; 2012 Jun; 57(6):347-51. PubMed ID: 22551898
[TBL] [Abstract][Full Text] [Related]
23. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
Sakuraba H
Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243
[TBL] [Abstract][Full Text] [Related]
24. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP; Poenaru L
Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
[TBL] [Abstract][Full Text] [Related]
25. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
Caggana M; Ashley GA; Desnick RJ; Eng CM
Am J Med Genet; 1997 Aug; 71(3):329-35. PubMed ID: 9268104
[TBL] [Abstract][Full Text] [Related]
26. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Nakao S; Kodama C; Takenaka T; Tanaka A; Yasumoto Y; Yoshida A; Kanzaki T; Enriquez AL; Eng CM; Tanaka H; Tei C; Desnick RJ
Kidney Int; 2003 Sep; 64(3):801-7. PubMed ID: 12911529
[TBL] [Abstract][Full Text] [Related]
27. Mutational analysis of the GLA gene in Mexican families with Fabry disease.
Gutiérrez-Amavizca BE; Gal A; Ortíz-Orozco R; Orth U; Prado Montes De Oca E; Gutiérrez-Amavizca JP; Figuera LE
J Genet; 2017 Mar; 96(1):161-164. PubMed ID: 28360401
[TBL] [Abstract][Full Text] [Related]
28. A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
Blanch LC; Meaney C; Morris CP
Hum Mutat; 1996; 8(1):38-43. PubMed ID: 8807334
[TBL] [Abstract][Full Text] [Related]
29. Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Yang CC; Lai LW; Whitehair O; Hwu WL; Chiang SC; Lien YH
Clin Genet; 2003 Mar; 63(3):205-9. PubMed ID: 12694230
[TBL] [Abstract][Full Text] [Related]
30. A missense mutation of the α-galactosidase A gene in a Chinese family of Fabry disease with renal failure.
Wang C; Wang Y; Zhu F; Xiong J
Kidney Blood Press Res; 2013; 37(4-5):221-8. PubMed ID: 23867994
[TBL] [Abstract][Full Text] [Related]
31. Identification of mutations in Colombian patients affected with Fabry disease.
Uribe A; Mateus HE; Prieto JC; Palacios MF; Ospina SY; Pasqualim G; da Silveira Matte U; Giugliani R
Gene; 2015 Dec; 574(2):325-9. PubMed ID: 26297554
[TBL] [Abstract][Full Text] [Related]
32. Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
De Brabander I; Yperzeele L; Ceuterick-De Groote C; Brouns R; Baker R; Belachew S; Delbecq J; De Keulenaer G; Dethy S; Eyskens F; Fumal A; Hemelsoet D; Hughes D; Jeangette S; Nuytten D; Redondo P; Sadzot B; Sindic C; Sheorajpanday R; Thijs V; Van Broeckhoven C; De Deyn PP
Clin Neurol Neurosurg; 2013 Jul; 115(7):1088-93. PubMed ID: 23219219
[TBL] [Abstract][Full Text] [Related]
33. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S; Chang HH; Kawasaki K; Yasuda K; Wu HL; Garman SC; Fan JQ
Biochem J; 2007 Sep; 406(2):285-95. PubMed ID: 17555407
[TBL] [Abstract][Full Text] [Related]
34. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.
Adalsteinsdottir B; Palsson R; Desnick RJ; Gardarsdottir M; Teekakirikul P; Maron M; Appelbaum E; Neisius U; Maron BJ; Burke MA; Chen B; Pagant S; Madsen CV; Danielsen R; Arngrimsson R; Feldt-Rasmussen U; Seidman JG; Seidman CE; Gunnarsson GT
Circ Cardiovasc Genet; 2017 Aug; 10(4):. PubMed ID: 28798024
[TBL] [Abstract][Full Text] [Related]
35. Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.
Kirkilionis AJ; Riddell DC; Spence MW; Fenwick RG
J Med Genet; 1991 Apr; 28(4):232-40. PubMed ID: 1677424
[TBL] [Abstract][Full Text] [Related]
36. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A; Coll MJ; Chabás A
Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095
[TBL] [Abstract][Full Text] [Related]
37. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
Celtikci B; Topçu M; Ozkara HA
Clin Biochem; 2011 Jul; 44(10-11):809-12. PubMed ID: 21569769
[TBL] [Abstract][Full Text] [Related]
38. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
Sakuraba H; Oshima A; Fukuhara Y; Shimmoto M; Nagao Y; Bishop DF; Desnick RJ; Suzuki Y
Am J Hum Genet; 1990 Nov; 47(5):784-9. PubMed ID: 2171331
[TBL] [Abstract][Full Text] [Related]
39. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X; Ouyang Y; Wang Z; Ren H; Shen P; Wang W; Xu Y; Ni L; Yu X; Chen X; Zhang W; Yang L; Li X; Xu J; Chen N
PLoS One; 2016; 11(8):e0161330. PubMed ID: 27560961
[TBL] [Abstract][Full Text] [Related]
40. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A
Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
